Discuss This Disease

4 free views remaining today

Feingold syndrome

ICD-10 Codes

Related ICD-10:

Description

Feingold syndrome, also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly [6]. Individuals with this condition have characteristic abnormalities of their fingers and toes [4], which can include shortening of the 2nd and 5th middle phalanx of the hand [3] and clinodactyly (a curved or hooked finger) [5].

The syndrome is typically marked by various combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and heart malformations [7]. Cognition may also be affected in individuals with Feingold syndrome [8].

In terms of specific characteristics, Feingold syndrome type 1 is characterized by oesophageal, duodenal, and anal atresia, as well as heart malformations, urinary tract malformations, microcephaly, minor facial anomalies, and characteristic digital abnormalities [9].

Additional Characteristics

  • microcephaly
  • limb malformations
  • esophageal and duodenal atresias
  • heart malformations
  • shortening of the 2nd and 5th middle phalanx of the hand
  • clinodactyly (a curved or hooked finger)
  • oesophageal, duodenal, and anal atresia
  • urinary tract malformations
  • minor facial anomalies
  • characteristic digital abnormalities

Signs and Symptoms

Feingold syndrome, also known as Feingold syndrome type 1 or type 2, is a rare genetic disorder characterized by several distinct signs and symptoms.

Common Signs and Symptoms:

  • Digital abnormalities: Individuals with Feingold syndrome often have characteristic abnormalities of their fingers and toes [1].
  • Microcephaly: A smaller than average head size is a common feature in people with this condition [6].
  • Limb malformations: The presence of unusual fingers and toes is a hallmark of Feingold syndrome [5].
  • Esophageal and duodenal atresias: A blockage in part of the digestive system, which can lead to symptoms such as coughing, gagging, vomiting, abdominal distension, and respiratory distress [2].
  • Learning disability or mental retardation: Many individuals with Feingold syndrome experience learning difficulties or mental retardation [4][7].

Other Possible Symptoms:

  • Respiratory distress
  • Abdominal distension
  • Coughing
  • Gagging
  • Vomiting

It's essential to note that the severity and combination of symptoms can vary greatly among individuals with Feingold syndrome.

References: [1] Context result 1 [2] Context result 2 [4] Context result 4 [5] Context result 5 [6] Context result 6 [7] Context result 7

Additional Symptoms

  • Microcephaly
  • Coughing
  • Abdominal distension
  • Gagging
  • Limb malformations
  • Digital abnormalities
  • Esophageal and duodenal atresias
  • Learning disability or mental retardation
  • vomiting
  • obsolete respiratory distress

Diagnostic Tests

Feingold syndrome, also known as MIR17HG-related disorder, is a rare genetic condition that affects multiple systems in the body. Diagnostic tests for Feingold syndrome are crucial for accurate diagnosis and management of the condition.

Genetic Testing

Genetic testing is the primary diagnostic tool for Feingold syndrome. Exome sequencing is the most commonly used genomic testing method to identify pathogenic variants in the MIR17HG gene [5]. This test can detect mutations, deletions, or duplications in the gene that cause the condition.

Other Diagnostic Tests

In addition to genetic testing, other diagnostic tests may be performed to rule out other conditions and confirm the diagnosis of Feingold syndrome. These include:

  • Imaging studies: Imaging studies such as X-rays, CT scans, MRI scans, and ultrasound may be used to evaluate the presence of gastrointestinal atresias, heart malformations, urinary tract malformations, and other associated anomalies [6].
  • Blood tests: Blood tests may be performed to rule out other conditions that may present with similar symptoms.
  • Gastrointestinal evaluation: Gastrointestinal evaluation may include upper GI series, barium enema, or endoscopy to assess the presence of gastrointestinal atresias.

Diagnostic Teams

A multidisciplinary diagnostic team may be involved in diagnosing Feingold syndrome. This team may include:

  • Geneticist: A geneticist can provide expertise on genetic testing and counseling.
  • Gastroenterologist: A gastroenterologist can evaluate the presence of gastrointestinal atresias and other associated anomalies.
  • Neurologist: A neurologist can assess any neurological symptoms or abnormalities.
  • Orthopedic specialist: An orthopedic specialist can evaluate any musculoskeletal abnormalities.

References

[5] Feingold syndrome is a disorder that affects many parts of the body. There are two types of Feingold syndrome, distinguished by their genetic cause [5]. [6] Feingold syndrome type 1 is characterised by oesophageal, duodenal and anal atresia, heart malformations, urinary tract malformations, microcephaly, minor facial dysmorphism, and digital anomalies [6].

Note: The above information is based on the provided context and may not be comprehensive or up-to-date. It's essential to consult with a healthcare professional for accurate diagnosis and management of Feingold syndrome.

Additional Diagnostic Tests

  • Blood tests
  • Exome sequencing
  • Imaging studies (X-rays, CT scans, MRI scans, ultrasound)
  • Gastrointestinal evaluation (upper GI series, barium enema, endoscopy)

Treatment

Treatment Options for Feingold Syndrome

Feingold syndrome, also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare genetic disorder characterized by abnormalities in the fingers, eyes, esophagus, and duodenum. While there is no specific cure for this condition, various treatment options are available to manage its symptoms.

  • Gastrointestinal atresia: This condition requires prompt treatment involving IV fluid administration and surgery. Optimal surgical treatment of infants with esophageal atresia and tracheoesophageal fistula can improve outcomes [5].
  • Renal and cardiac anomalies: These conditions should receive standard treatments, and prophylactic antibiotics may be beneficial to prevent infections.
  • Intellectual disability: Special education is recommended for children with Feingold syndrome to help them develop their cognitive skills.

Nutritional Supplements

Recent studies suggest that reduced protein synthesis in developing gut cells contributes to Feingold syndrome type 1. However, a nutritional supplement may help reverse this condition [8]. Further research is needed to confirm the effectiveness of these supplements.

Alternative Treatments for Associated Conditions

Some individuals with Feingold syndrome may also experience attention deficit hyperactivity disorder (ADHD). Alternative treatments for ADHD include elimination diets, omega-3 supplements, parent training, exercise, yoga, meditation, neurofeedback, and memory training [9].

It is essential to note that each individual's symptoms and needs are unique. A healthcare professional should be consulted to determine the best course of treatment for a person with Feingold syndrome.

References:

[5] Optimal surgical treatment of infants with esophageal atresia and tracheoesophageal fistula can improve outcomes. [8] Reduced protein synthesis in developing gut cells contributes to Feingold syndrome type 1, but a nutritional supplement may help reverse it. [9] Alternative treatments for ADHD include elimination diets, omega-3 supplements, parent training, exercise, yoga, meditation, neurofeedback, and memory training.

Recommended Medications

  • Gastrointestinal atresia treatment: IV fluid administration and surgery
  • Renal and cardiac anomalies treatment: standard treatments with prophylactic antibiotics
  • Intellectual disability treatment: special education

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Additional Differential Diagnoses

  • Item 1
  • Item 2
  • Item 3

Additional Information

oboInOwl#hasOBONamespace
disease_ontology
oboInOwl#hasDbXref
ORDO:1305
oboInOwl#creation_date
2015-11-04T16:11:58Z
oboInOwl#id
DOID:0060464
core#notation
DOID:0060464
oboInOwl#created_by
elvira
IAO_0000115
A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation.
oboInOwl#hasExactSynonym
ODED syndrome
rdf-schema#label
Feingold syndrome
rdf-schema#subClassOf
t341273
oboInOwl#inSubset
http://purl.obolibrary.org/obo/doid#DO_rare_slim
IDO_0000664
http://purl.obolibrary.org/obo/GENO_0000147
relatedICD
http://example.org/icd10/Q87.8
22-rdf-syntax-ns#type
http://www.w3.org/2002/07/owl#Class
rdf-schema#domain
https://w3id.org/def/predibionto#has_symptom_1490
owl#annotatedSource
t340931

Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.

It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.